ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2427T>A (p.Ile809=)

gnomAD frequency: 0.00081  dbSNP: rs139686090
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000225712 SCV000168476 benign not specified 2014-05-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000724447 SCV000226764 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing
Invitae RCV000232742 SCV000287253 benign Congenital contractural arachnodactyly 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000225712 SCV000308598 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002310691 SCV000317805 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-10-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina RCV000232742 SCV000452628 benign Congenital contractural arachnodactyly 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000232742 SCV000745433 likely benign Congenital contractural arachnodactyly 2017-06-28 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659604 SCV000781443 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000724447 SCV000885447 likely benign not provided 2017-08-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724447 SCV002545348 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing FBN2: BP4, BP7, BS1
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277247 SCV002565889 benign Ehlers-Danlos syndrome 2020-12-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000225712 SCV004029374 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000232742 SCV000745937 benign Congenital contractural arachnodactyly 2015-03-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000724447 SCV001929427 likely benign not provided no assertion criteria provided clinical testing

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